Based on analysis of variation at ten allozyme loci in three age groups (25-35, 40-80, and more than 100 years of age) of plants and in seed embryos, demographic dynamics of the gene pools was studied in a small (60.5 ha) isolated relict population of chalk pine Pinus sylvestris var. cretacea Kalenicz. ex Kom. from the steppe zone of Ukraine. The observed grenotype proportions in these tree groups were shown to fit Hardy-Weinberg expectations, while in the embryos of their seeds, an excess of homozygotes was observed at five to nine loci. The mean observed heterozygosity in the sample of old (> 100 years of age) trees (H(O) = 0.225) was substantially lower than in trees of the two other age groups (H(O) = 0.307; 0.311), but significantly higher than in the corresponding embryo samples (H(O) = 0.183-0.207). No allele and genotype heterogeneity of the maternal trees and embryos of their seeds was found. However, heterogeneity was high when the progeny of trees of different ages, particularly in pairs with old trees, were compared.
The gross and histopathological findings in the brain and spinal cord of five Alaskan Husky dogs with a novel incapacitating and ultimately fatal familial and presumed hereditary neurodegenerative disorder are described. Four dogs presented with neurological deficits before the age of 1 year (7-11 months) and one animal at 2.5 years old. Clinical signs in all dogs were of acute onset and included ataxia, seizures, behavioral abnormalities, blindness, facial hypalgesia and difficulties in prehension of food. In animals allowed to survive, the disease was static but with frequent recurrences. Pathological findings were limited to the central nervous system. Grossly visible bilateral and symmetrical cavitated foci were consistently present in the thalamus with variable extension into the caudal brain stem. Microscopic lesions were more widespread and included foci of bilateral and symmetrical degeneration in the basal nuclei, midbrain, pons and medulla, as well as multifocal lesions at the base of sulci in the cerebral cortex and in the gray matter of cerebellar folia in the ventral vermis. Neuronal loss with concomitant neuronal sparing, spongiosis, vascular hypertrophy and hyperplasia, gliosis, cavitation and transient mixed inflammatory infiltration were the main histopathological findings. In addition, a population of reactive gemistocytic astrocytes with prominent cytoplasmic vacuolation was noted in the thalamus. Lesions of this nature in this distribution within the neuroaxis have not been reported in dogs. The neuropathological findings resemble Leigh's disease/subacute necrotizing encephalomyelopathy of man. Neuronal sparing in conjunction with apparently transient astrocytic vacuolation point to the possible pathogenetic role of astrocytes in the evolution of these lesions. An inherited metabolic derangement of unknown nature is postulated as the cause of this breed-specific disorder.
A Tatar family from a semi-isolated village in the Gorky Region is described in which a neurological and ophthalmological syndrome was inherited. In homozygotes this syndrome comprised the degeneration of subcortical cerebral ganglia (hyperkinesis), nystagmus, oligophrenia and a peculiar variant of tapetoretinal degeneration. Heterozygotes exhibited ophthalmological abnormalities, such as the similar defects of eye bottom and nystagmus. The two homozygotes observed were sibs derived from a marriage between first cousins. Five more families with other rare hereditary anomalies (both dominant and recessive) were discovered in this village. The total inbreeding coefficient in the village was found to be 0.0075. The high degree of inbreeding, subisolation and high fertility are regarded as factors favorable for the distribution of rare deleterious mutations due to the founder-effect.
From: Fortuine, Robert et al. 1993. The Health of the Inuit of North America: A Bibliography from the Earliest Times through 1990. University of Alaska Anchorage. Citation number 1257.
[A population-biochemical study of mentally retarded persons in the Tula region (a geneologic analysis of families of probands with hereditary metabolic defects)].
Association between radiographic assessment of hip status and subsequent incidence of veterinary care and mortality related to hip dysplasia in insured Swedish dogs.
Department of Animal Breeding and Genetics, Faculty of Veterinary Medicine and Animal Science, Swedish University of Agricultural Sciences, P.O. 7023, SE-750 07 Uppsala, Sweden. Sofia.Malm@hgen.slu.se
Our objective was to evaluate the association between grading of hip status as assessed by radiographic examination (hip screening) and subsequent incidence of veterinary care and mortality related to hip dysplasia (HD) in five breeds of insured dogs in Sweden. Screening results for hip status from the Swedish Kennel Club and data on veterinary care and mortality from the insurance company Agria were merged based on the registration number of the dog. Dogs of five breeds (Bernese Mountain Dogs, German Shepherds, Golden Retrievers, Labrador Retrievers, and Rottweilers) screened during 1995-2004 and covered by an insurance plan for veterinary care or life at the time of screening were included. The study populations included between 1667 and 10,663 dogs per breed. Breed-specific multivariable Cox proportional-hazards analyses were performed to evaluate the impact of radiographic hip status on time from hip screening to first HD-related veterinary and life claim, respectively. The effects of gender, birth season, and a time-varying covariate of year were also studied. Additional analyses, on the five breeds combined, were performed to investigate the effects of hip status, breed, and the interaction between hip status and breed. The effect of hip status was highly significant (P
Epiphytic dwarf males on the females present a possible solution to the problem of short fertilization distances in mosses. However, leptokurtic spore dispersal makes dwarf males likely to be closely related to their host shoot, with an accompanying risk of inbreeding. The capacity of a female to harbour a high number of different dwarf males suggests that there may be mechanisms in place that counteract inbreeding, such as polyandry and post-fertilization selection. We have genotyped sporophytes, female host shoots and dwarf males in four populations of the moss Homalothecium lutescens. We found no evidence of selective sporophyte abortion based on level of heterozygosity. The occurrence of entirely homozygous sporophytes together with significantly positive inbreeding coefficients in three of the populations (mean FIS between 0.48 and 0.64) suggest frequent mother-son mating events. However, 23% of all sampled sporophytes had a higher level of heterozygosity compared with the mean expected heterozygosity at the population level. Polyandry was frequent, on average 59% of the sporophytes on a female shoot were sired by distinct fathers. In conclusion, sporadic fertilizations by dwarf males originating from nonhost female shoots appear to counteract strong inbreeding.
This study shows how a Gibbs sampling approach can be used for Bayesian inference of inbreeding depression. The method presented is mainly concerned with organisms that can be both selfed and outcrossed. Tests performed on simulated data with unequal variances and missing observations show that the method works well. Real data from the plant Scabiosa canescens is also analyzed.
Characterization of canine rod photoreceptor cGMP-gated cation channel alpha-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards.
The nucleotide sequence of the canine rod photoreceptor cGMP-gated cation channel alpha-subunit (cCNCG1) cDNA has been determined. The open reading frame consists of 2073 nucleotides, which encode a putative protein of 691 amino acids. In addition, we have established the exon/intron boundaries of the cCNCG1 gene and determined the complete sequence of six introns of a total of eight. The exon/intron organization (location and length of exons and introns) of the cCNCG1 gene is very similar to that of the human rod photoreceptor cGMP-gated cation channel alpha-subunit gene. We used single-strand conformation polymorphism analysis to search for potential pathogenic sequence changes in the cCNCG1 gene in a Swedish Briard and Briard-Beagle dog kindred, in which an autosomal recessive retinal dystrophy is segregating, a disease which shows phenotypic similarities to retinitis pigmentosa, a heterogeneous group of hereditary and progressive retinal degeneration in human. In intron 3, we found several DNA polymorphisms, which do not cosegregate with the affected status of the dogs, thus excluding cCNCG1 as a candidate gene for the retinal dystrophy in this strain of Swedish Briards.
A large inbred family is described in which there were seven cases of Hodgkin's disease, three of lymphosarcoma, two of thymoma, two of common variable immunodeficiency, and single cases of retinoblastoma, neuroblastoma, and rhabdomyosarcoma. There have been no other lymphoma cases in the community during the past decade. Further study of this family may help to define the genetic basis for development of Hodgkin's disease and other disorders.
